Mutagenetix > Incidental Mutation

Incidental Mutation 'R6039:Parp8'

486758

Institutional Source

Beutler Lab

Gene Symbol

Parp8

Ensembl Gene

ENSMUSG00000021725

Gene Name

poly (ADP-ribose) polymerase family, member 8

Synonyms

D13Ertd275e, 2810430O08Rik

MMRRC Submission

043259-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116877598 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 561 (S561P)

Ref Sequence

ENSEMBL: ENSMUSP00000152911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022239] [ENSMUST00000223949] [ENSMUST00000226107]

AlphaFold

Q3UD82

Predicted Effect

probably damaging
Transcript: ENSMUST00000022239
AA Change: S600P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: S600P

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	22	34	N/A	INTRINSIC
low complexity region	163	174	N/A	INTRINSIC
low complexity region	217	228	N/A	INTRINSIC
internal_repeat_1	332	410	4.61e-10	PROSPERO
internal_repeat_1	404	476	4.61e-10	PROSPERO
low complexity region	497	514	N/A	INTRINSIC
Pfam:PARP	712	839	2e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000223949
AA Change: S561P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000226107

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	C	T	6: 92,908,546	R416Q	possibly damaging	Het
Adgre1	C	A	17: 57,406,859	D181E	probably benign	Het
Arhgap24	T	C	5: 102,880,786	S183P	probably damaging	Het
Asb1	T	C	1: 91,547,026	L90P	probably damaging	Het
Bmp3	T	C	5: 98,872,350	F211L	probably benign	Het
C8a	A	G	4: 104,845,942	I306T	probably benign	Het
Cdkn3	G	A	14: 46,769,916	G177R	probably damaging	Het
Chat	A	G	14: 32,449,027	S172P	probably damaging	Het
Chd5	CAAGAAGAAGAAGAAGAA	CAAGAAGAAGAAGAA	4: 152,353,621		probably benign	Het
Cyp4a12a	T	C	4: 115,327,223	I265T	probably damaging	Het
Dlst	T	A	12: 85,118,890		probably null	Het
Dnmt1	A	T	9: 20,926,420		probably benign	Het
Fbn1	C	T	2: 125,363,880	E1066K	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fstl1	T	A	16: 37,821,176	S105T	probably benign	Het
Gm19410	C	G	8: 35,809,364	A1725G	probably benign	Het
Hspb7	A	G	4: 141,423,904	N119S	probably damaging	Het
Il20	T	A	1: 130,910,741	D73V	possibly damaging	Het
Insrr	T	C	3: 87,809,301	I612T	possibly damaging	Het
Kcnma1	T	C	14: 23,309,037	Y1107C	probably benign	Het
Klhl32	A	G	4: 24,792,615		probably null	Het
Krt77	C	A	15: 101,860,916	R470L	possibly damaging	Het
Muc1	T	C	3: 89,232,029	Y579H	probably damaging	Het
Myof	T	C	19: 37,977,684	D396G	probably damaging	Het
Myom1	T	G	17: 71,110,751	D1316E	probably damaging	Het
Nbea	T	C	3: 56,005,117	E1083G	probably benign	Het
Nek9	G	A	12: 85,313,085	A531V	probably benign	Het
Nlrp12	A	T	7: 3,241,372	I170N	possibly damaging	Het
Nup98	A	G	7: 102,134,795	I1093T	probably benign	Het
Ovch2	G	A	7: 107,789,111	L421F	probably damaging	Het
Paqr4	T	C	17: 23,739,994	D11G	probably damaging	Het
Pcgf5	T	A	19: 36,442,906	F179L	probably damaging	Het
Pde4d	A	T	13: 109,948,342	Q422L	probably damaging	Het
Pigs	T	A	11: 78,341,825	V495E	probably damaging	Het
Polh	C	T	17: 46,188,033	R252H	probably benign	Het
Psg28	T	C	7: 18,426,182	D363G	possibly damaging	Het
Ptgir	A	T	7: 16,906,890	I36F	possibly damaging	Het
Ptprr	G	A	10: 116,236,763		probably null	Het
Rax	C	T	18: 65,935,347	G229D	unknown	Het
Secisbp2l	T	A	2: 125,773,216	H163L	probably benign	Het
Sf3a2	A	G	10: 80,801,463	Y45C	probably damaging	Het
Sgo2a	C	T	1: 58,016,616	T653I	possibly damaging	Het
Slc38a9	A	T	13: 112,669,697	I26F	probably damaging	Het
Slc5a8	A	G	10: 88,886,574	I90V	probably benign	Het
Slx4	G	A	16: 3,986,047	H968Y	possibly damaging	Het
Stam2	T	C	2: 52,709,599	T233A	probably benign	Het
Tln1	G	C	4: 43,555,052	F259L	probably damaging	Het
Trav4-2	G	A	14: 53,418,409	V8M	possibly damaging	Het
Ttll5	T	A	12: 85,831,955	H45Q	probably damaging	Het
Ttn	C	T	2: 76,884,418		probably benign	Het
Ush2a	T	A	1: 188,319,020	F234L	possibly damaging	Het
Vmn2r74	T	A	7: 85,958,318		probably null	Het
Wdr6	CTG	C	9: 108,573,795		probably null	Het
Zfp644	A	G	5: 106,635,425	S997P	possibly damaging	Het
Zfp853	G	A	5: 143,288,774	Q364*	probably null	Het

Other mutations in Parp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Parp8	APN	13	116927323	missense	probably damaging	1.00
IGL01346:Parp8	APN	13	116895064	missense	possibly damaging	0.72
IGL01793:Parp8	APN	13	116910879	missense	probably damaging	1.00
IGL01926:Parp8	APN	13	116862302	splice site	probably benign
IGL01958:Parp8	APN	13	116876572	missense	probably benign	0.14
IGL02131:Parp8	APN	13	116910873	missense	probably benign	0.08
IGL02398:Parp8	APN	13	116910863	critical splice donor site	probably null
IGL02496:Parp8	APN	13	116862302	splice site	probably benign
IGL03135:Parp8	APN	13	116910942	missense	probably benign	0.41
IGL03143:Parp8	APN	13	116910961	splice site	probably benign
IGL03201:Parp8	APN	13	116863069	splice site	probably benign
blondi	UTSW	13	116893041	missense	possibly damaging	0.77
Heidi	UTSW	13	116862204	splice site	probably null
R0362:Parp8	UTSW	13	116924968	nonsense	probably null
R0699:Parp8	UTSW	13	116922584	missense	probably benign	0.01
R1445:Parp8	UTSW	13	117025350	splice site	probably null
R1676:Parp8	UTSW	13	116877528	missense	probably damaging	0.99
R1977:Parp8	UTSW	13	116910913	missense	probably damaging	0.96
R2019:Parp8	UTSW	13	116868432	splice site	probably benign
R2049:Parp8	UTSW	13	116894886	missense	probably benign	0.20
R2142:Parp8	UTSW	13	116894886	missense	probably benign	0.20
R2474:Parp8	UTSW	13	116893041	missense	possibly damaging	0.77
R2566:Parp8	UTSW	13	116895687	missense	possibly damaging	0.78
R3863:Parp8	UTSW	13	116894767	missense	probably benign	0.01
R4126:Parp8	UTSW	13	116868469	missense	possibly damaging	0.94
R4518:Parp8	UTSW	13	116895673	missense	possibly damaging	0.62
R4519:Parp8	UTSW	13	116895673	missense	possibly damaging	0.62
R4767:Parp8	UTSW	13	116868536	missense	probably damaging	0.99
R5355:Parp8	UTSW	13	116862204	splice site	probably null
R5633:Parp8	UTSW	13	116876580	missense	probably damaging	1.00
R5942:Parp8	UTSW	13	116869433	missense	probably benign	0.12
R5978:Parp8	UTSW	13	116895732	missense	probably benign	0.01
R6039:Parp8	UTSW	13	116877598	missense	probably damaging	1.00
R6753:Parp8	UTSW	13	116895115	missense	possibly damaging	0.91
R7016:Parp8	UTSW	13	116895091	missense	probably damaging	1.00
R7139:Parp8	UTSW	13	117025266	missense	probably benign	0.21
R7305:Parp8	UTSW	13	116894925	missense	possibly damaging	0.95
R7314:Parp8	UTSW	13	116868460	missense	probably benign	0.01
R7360:Parp8	UTSW	13	116895771	missense	probably benign	0.02
R7526:Parp8	UTSW	13	116894805	missense	probably damaging	1.00
R8078:Parp8	UTSW	13	116924983	missense	probably damaging	1.00
R8108:Parp8	UTSW	13	116867073	nonsense	probably null
R8372:Parp8	UTSW	13	116855250	missense	probably damaging	1.00
R9005:Parp8	UTSW	13	116876590	missense	probably benign
R9072:Parp8	UTSW	13	116911415	missense	probably damaging	1.00
R9073:Parp8	UTSW	13	116911415	missense	probably damaging	1.00
R9351:Parp8	UTSW	13	116864245	missense	probably damaging	0.99
R9441:Parp8	UTSW	13	116893026	missense	probably damaging	1.00
R9448:Parp8	UTSW	13	116902824	nonsense	probably null
R9470:Parp8	UTSW	13	116894756	missense	probably benign	0.02
R9562:Parp8	UTSW	13	116893095	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CATGAGATTAAAGCCTCCATCATG -3'
(R):5'- TGAGCAGTCAGAGGCAACAC -3'

Sequencing Primer
(F):5'- TAAAGCCTCCATCATGGTTCTTGGG -3'
(R):5'- AGATCAGTTTTCCAGTTTTGGCCAAG -3'

Posted On

2017-08-16